"Nonsyndromic cleft lip palate"[Disease/phenotype] AND "University of - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444210	NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)	PHYH	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 198539	NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	PHYH (R245Q +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 617834	NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)	PHYH (R82G)	Single nucleotide variant (5 prime UTR variant +1 more)	Phytanic acid storage disease +2 more	GConflicting classifications of pathogenicity
Select item 617835	NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)	HKDC1 (H420Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GBenign
Select item 617836	NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter)	HKDC1 (R768*)	Single nucleotide variant (nonsense)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617837	NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu)	VWA8 (V1564L)	Single nucleotide variant (missense variant)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617838	NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter)	VWA8 (R1520*)	Single nucleotide variant (nonsense)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617839	NM_015058.2(VWA8):c.3676-7T>C	VWA8	Single nucleotide variant (intron variant)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617840	NM_015058.2(VWA8):c.2451G>A (p.Thr817=)	VWA8	Single nucleotide variant (synonymous variant)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617841	NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)	VWA8 (R668Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 97 +1 more	GBenign/Likely benign
Select item 617833	NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala)	ACSS2, LOC126863018 (V496A +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic cleft lip palate	GPathogenic